Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001305684 | SCV001495029 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-07-08 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 21638052). ClinVar contains an entry for this variant (Variation ID: 52224). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 2315 of the BRCA2 protein (p.Ile2315Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. |
| Ambry Genetics | RCV002371864 | SCV002668250 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-04-16 | criteria provided, single submitter | clinical testing | The p.I2315V variant (also known as c.6943A>G), located in coding exon 12 of the BRCA2 gene, results from an A to G substitution at nucleotide position 6943. The isoleucine at codon 2315 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Breast Cancer Information Core |
RCV000113676 | SCV000146976 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 1999-04-05 | no assertion criteria provided | clinical testing | |
| Sharing Clinical Reports Project |
RCV000113676 | SCV000189313 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2008-08-25 | no assertion criteria provided | clinical testing |